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ArticlesPeer ReviewedFull Text
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
Author / Creator:Kratz, C P ; Franke, L ; Peters, H ; Kohlschmidt, N ; Kazmierczak, B ; Finckh, U ; Bier, A ; Eichhorn, B ; Blank, C ; Kraus, C ; Kohlhase, J ; Pauli, S ; Wildhardt, G ; Kutsche, K ; Auber, B ; Christmann, A ; Bachmann, N ; Mitter, D ; Cremer, F W ; Mayer, K ; Daumer-Haas, C ; Nevinny-Stickel-Hinzpeter, C ; Oeffner, F ; Schlüter, G ; Gencik, M ; Überlacker, B ; Lissewski, C ; Schanze, I ; Greene, M H ; Spix, C ; Zenker, M
Publisher:London: Nature Publishing Group UK
Journal title:British journal of cancer, 2015-04, Vol.112 (8), p.1392-1397
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ArticlesPeer ReviewedFull Text
Cancer in Costello syndrome: a systematic review and meta-analysis
Author / Creator:Astiazaran-Symonds, Esteban ; Ney, Gina M. ; Higgs, Cecilia ; Oba, Leatrisse ; Srivastava, Radhika ; Livinski, Alicia A. ; Rosenberg, Philip S. ; Stewart, Douglas R.
Publisher:London: Nature Publishing Group UK
Journal title:British journal of cancer, 2023-06, Vol.128 (11), p.2089-2096
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ArticlesPeer ReviewedFull Text
Biomarker Landscape in RASopathies
Author / Creator:Ferrito, Noemi ; Báez-Flores, Juan ; Rodríguez-Martín, Mario ; Sastre-Rodríguez, Julián ; Coppola, Alessio ; Isidoro-García, María ; Prieto-Matos, Pablo ; Lacal, Jesus
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-08, Vol.25 (16), p.8563
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ArticlesPeer ReviewedFull Text
Genotype and phenotype spectrum of NRAS germline variants
Author / Creator:Altmüller, Franziska ; Lissewski, Christina ; Bertola, Debora ; Flex, Elisabetta ; Stark, Zornitza ; Spranger, Stephanie ; Baynam, Gareth ; Buscarilli, Michelle ; Dyack, Sarah ; Gillis, Jane ; Yntema, Helger G ; Pantaleoni, Francesca ; van Loon, Rosa LE ; MacKay, Sara ; Mina, Kym ; Schanze, Ina ; Tan, Tiong Yang ; Walsh, Maie ; White, Susan M ; Niewisch, Marena R ; García-Miñaúr, Sixto ; Plaza, Diego ; Ahmadian, Mohammad Reza ; Cavé, Hélène ; Tartaglia, Marco ; Zenker, Martin
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.823-831
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ArticlesPeer ReviewedFull Text
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies
Author / Creator:Leung, Gordon K. C. ; Luk, H. M. ; Tang, Vincent H. M. ; Gao, W. W. ; Mak, Christopher C. Y. ; Yu, Mullin H. C. ; Wong, W. L. ; Chu, Yoyo W. Y. ; Yang, W. L. ; Wong, Wilfred H. S. ; Ma, Alvin C. H. ; Leung, Anskar Y. H. ; Jin, D. Y. ; Chan, Kelvin Y. K. ; Allanson, Judith ; Lo, Ivan F. M. ; Chung, Brian H. Y.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-02, Vol.8 (1), p.2421-9, Article 2421
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ArticlesPeer ReviewedFull Text
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer
Author / Creator:Hartung, Anne-Mette ; Swensen, Jeff ; Uriz, Inaki E. ; Lapin, Morten ; Kristjansdottir, Karen ; Petersen, Ulrika S. S. ; Bang, Jeanne Mari V. ; Guerra, Barbara ; Andersen, Henriette Skovgaard ; Dobrowolski, Steven F. ; Carey, John C. ; Yu, Ping ; Vaughn, Cecily ; Calhoun, Amy ; Larsen, Martin R. ; Dyrskjøt, Lars ; Stevenson, David A. ; Andresen, Brage S.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-05, Vol.12 (5), p.e1006039-e1006039
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ArticlesPeer ReviewedFull Text
Vascular malformation rupture in a patient affected by Costello syndrome
Author / Creator:Barbieri, Francesca ; Hall, Ignacio Fernando ; Elia, Leonardo ; Civilini, Efrem
Publisher:England: BMJ Publishing Group
Journal title:BMJ case reports, 2022-12, Vol.15 (12), p.e250948
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ArticlesPeer ReviewedFull Text
Costello syndrome model mice with a Hras G12S mutation are susceptible to develop house dust mite-induced atopic dermatitis
Author / Creator:Katata, Yu ; Inoue, Shin-ichi ; Asao, Atsuko ; Kobayashi, Shuhei ; Terui, Hitoshi ; Inoue-Shibui, Aya ; Abe, Taiki ; Niihori, Tetsuya ; Aiba, Setsuya ; Ishii, Naoto ; Kure, Shigeo ; Aoki, Yoko
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2020-08, Vol.11 (8), p.617, Article 617
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ArticlesPeer ReviewedFull Text
Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review
Author / Creator:Qian, Wen ; Zhang, Meijie ; Huang, Hequn ; Chen, Yihe ; Park, Gajin ; Zeng, Ni ; Li, Yueyue ; Lu, Qian ; Luo, Dan
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-06, Vol.9 (6), p.e1690-n/a
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ArticlesPeer ReviewedFull Text
Fatal Congenital Hypertrophic Cardiomyopathy and a Pancreatic Nodule Morphologically Identical to Focal Lesion of Congenital Hyperinsulinism in an Infant with Costello Syndrome: Case Report and Review...
Author / Creator:Sheffield, Brandon S. ; Yip, Stephen ; Ruchelli, Eduardo D. ; Dunham, Christopher P. ; Sherwin, Elizabeth ; Brooks, Paul A. ; Sur, Amitava ; Singh, Avash ; Human, Derek G. ; Patel, Millan S. ; Lee, Anna F.
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Pediatric and developmental pathology, 2015-05, Vol.18 (3), p.237-244
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ArticlesPeer ReviewedFull Text
The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model
Author / Creator:García-Cruz, Roseli ; Camats, Maria ; Calin, George A. ; Liu, Chang-Gong ; Volinia, Stefano ; Taccioli, Cristian ; Croce, Carlo M. ; Bach-Elias, Montse
Publisher:England: BioMed Central
Journal title:BMC medical genetics, 2015-07, Vol.16 (1), p.46-46, Article 46
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ArticlesPeer ReviewedFull Text
Excess of Neuromuscular Spindles in a Fetus with Costello Syndrome: A Clinicopathological Report
Author / Creator:Sinico, Martine ; Bassez, Guillaume ; Touboul, Claudine ; Cavé, Helene ; Vergnaud, Armand ; Zirah, Clément ; Fleury-Feith, Jocelyne ; Gettler, Sylvain ; Vojtek, Anne Marie ; Chevalier, Nicole ; Amram, Daniel ; Alsamad, Issam Abd ; Haddad, Bassam ; Encha-Razavi, ferechté
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Pediatric and developmental pathology, 2011-05, Vol.14 (3), p.218-223
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ReviewsPeer ReviewedFull Text
Mouse Genetics 2016: meeting report
Author / Creator:Bloom, Jordana C. ; Tran, Tina N. ; Yamulla, Robert J.
Publisher:New York: Springer US
Journal title:Mammalian genome, 2017, Vol.28 (3-4), p.81-89
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Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes

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Cancer in Costello syndrome: a systematic review and meta-analysis

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Biomarker Landscape in RASopathies

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Genotype and phenotype spectrum of NRAS germline variants

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Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies

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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

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Vascular malformation rupture in a patient affected by Costello syndrome

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Costello syndrome model mice with a Hras G12S mutation are susceptible to develop house dust mite-induced atopic dermatitis

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Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review

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Fatal Congenital Hypertrophic Cardiomyopathy and a Pancreatic Nodule Morphologically Identical to Focal Lesion of Congenital Hyperinsulinism in an Infant with Costello Syndrome: Case Report and Review...

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The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model

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Excess of Neuromuscular Spindles in a Fetus with Costello Syndrome: A Clinicopathological Report

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Mouse Genetics 2016: meeting report

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